ESPE Abstracts

Objectives: Prader-Willi syndrome (PWS) is a complex multisystem disorder due to loss of expression of paternally derived genes in the PWS critical region on chromosome 15q11-q13. The majority of the cases are due to the deletion of this region (del15), while 20–30% are caused by a maternal uniparental disomy of chromosome 15 (UPD15). The clinical picture is characterized by neonatal hypotonia and feeding difficulties in early infancy, early development of hyperphagia wit...

Background: Mild TSH elevations are frequently observed in obese patients, in the absence of any detectable thyroid disease.Aims and objective: To evaluate possible causes for the raised TSH levels and to verify possible biochemical and clinical consequences of this condition.Methods: We evaluated 779 (325 males/454 females) obese children, chronological age 14.38±2.56 (range 5.25 to 18.50), height SDS 0.27±1.04 (range &#...

Background: Growth hormone deficiency (GHD) is the commonest hypothalamic-pituitary (HP) disorder in cancer survivors. The only few studies in literature addressing GH efficacy in a large cohort of patients concluded that, though improving height outcome, GH therapy may not entirely restore final height (FH) potential according to mid-parental height (MPH). Thus, in order to optimize outcome, more information on factors influencing growth response in these chi...

Introduction: The leptin-melanocortin pathway is a well-studied pivotal player of body weight regulation and energy homeostasis. Pathogenic mutations of the genes involved in this pathway may result in early-onset severe obesity (ESO).Case Report: We hereby report the case of a 14-year-old girl who was referred to our pediatric outpatient clinic for the evaluation of ESO. Her parents were non-obese first cousins born in Morocco. At the t...

Background: Hypogonadism is one of the major diagnostic criteria of Prader-Willi syndrome (PWS). A hypogonadotropic hypogonadism is often present as a result of hypothalamic dysfunction (together with other hormonal disorders, such as growth hormone deficiency and hypothyroidism).Presentation: A 8.5-year-old boy with genetically-confirmed PWS (maternal uniparental disomy) presented in our Endocrinology Unit for routinely follow-up. Therapy with rhGH was ...

Background: Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue. Cardinal features affect cardiovascular system, eyes and skeleton. It is caused by mutations of FBN1 gene, which encodes the extracellular matrix protein fibrillin 1. The improper activation of TGFβ, due to defective fibrillin-1, is the pathophysiological mechanism. The altered modulation leads to overgrowth of long bones (disproportionate stature) and altered bone morphology.<p ...

Background: GLUT1 deficiency syndrome (GLUT1DS) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. Clinical features comprise motor and mental developmental delay, seizures with infantile onset, deceleration of head growth often resulting in acquired microcephaly, and a movement disorder with ataxia, dystonia, and spasticity. While it is known that ketogenic diet may cause growth retardation, GH deficiency (GHD) may represent anot...

Background: Cytochrome C oxidase (COX) is the fourth component of the respiratory chain. This protein is located within the internal membrane of mitochondria. COX deficiency is an inherited mitochondrial disease associated with considerable genetic and clinical variability(1). In fact, four clinical subtypes of this condition have been identified, each one with several phenotypic and genetic variants. Mitochondrial complex IV deficiency nuclear type 4 is a rar...

Aims: The aim of the study is to evaluate body composition and microcirculation in children and adolescents with growth hormone deficiency (GHD) and the effects of replacement therapy. These parameters were also evaluated in children and adolescents with suspected GH deficiency but in whom drug stimulus testing was later found to be normal.Materials and Methods: We examined 44 patients (25 males and 19 females) aged betw...

Background: The initial L-T4 dose currently recommended in the treatment of congenital hypothyroidism (CH) is 10–15 mcg/kg per day.Objective and hypotheses: We designed a multicenter randomized trial to evaluate the effects of different starting doses of L-T4 within the range 10–15 mcg/kg per day on neurocognitive development in children with CH.Method: Seventy-two children with CH diagnosed by neonatal screening were enr...